Varaico: Literature-Extracted Genetic Variants

FGFR1

2,164 papers

RefSeq Summary

The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family...

Pfam Domains

igaa 41–114UCSCImmunoglobulin domain

I-setaa 158–245UCSCImmunoglobulin I-set domain

I-setaa 257–356UCSCImmunoglobulin I-set domain

PK_Tyr_Ser-Thraa 474–750UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

fibroblast growth factor receptor 1

HGNC Previous Symbols

FLT2; KAL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_023110.3

p.D129_D131del3

c.385_392del9

Surrounding Variants

1 paper

NM_023110.3

p.D133E

c.399C>G

6 papers

NM_023110.3

p.D132_D133ins0

c.396_398dupTGA

NM_001174067.2

p.D165_D166ins0

c.495_497dupTGA

1 paper

NM_023110.3

p.D133E

c.399C>A

10 papers

NM_023110.3

p.D132_D133del1

c.396_398delTCA

9 papers

NM_023110.3

p.D133del1

c.397_398delGTC

1 paper

NM_023110.3

p.D132_D133del2

c.394_398del6

1 paper

NM_023110.3

p.D133ins1

c.398_399insTGA

1 paper

NM_023110.3

p.D133N

c.397G>A

2 papers

NM_023110.3

p.S134F

c.401C>T

1 paper

NM_023110.3

p.S134C

c.401C>G

1 paper

NM_023110.3

p.S134Y

c.401C>A

1 paper

NM_023110.3

p.S134delins

c.400_401delinsGA